Frédérique Audic
A5065546450- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Neurofibromatosis and Schwannoma Cases
- Hereditary Neurological Disorders
- Cardiomyopathy and Myosin Studies
- Neurological diseases and metabolism
- Acute Ischemic Stroke Management
- Meningioma and schwannoma management
- Myasthenia Gravis and Thymoma
- Traumatic Brain Injury and Neurovascular Disturbances
- Stroke Rehabilitation and Recovery
- Neuroblastoma Research and Treatments
- Peripheral Neuropathies and Disorders
- Children's Physical and Motor Development
- Genetics and Neurodevelopmental Disorders
- Long-Term Effects of COVID-19
- Chromatin Remodeling and Cancer
- Amyotrophic Lateral Sclerosis Research
- Spinal Dysraphism and Malformations
- Motor Control and Adaptation
- Sarcoma Diagnosis and Treatment
- Cerebral Palsy and Movement Disorders
Hôpital de la Timone
2017-2025
Inserm
2018-2023
Aix-Marseille Université
2018-2023
Centre de Génétique Médicale de Marseille
2018-2023
Assistance Publique – Hôpitaux de Paris
2019-2022
Hôpital Necker-Enfants Malades
2022
Assistance Publique Hôpitaux de Marseille
2022
Hôpital Raymond-Poincaré
2021
Université de Bordeaux
2021
Hôpital Roger Salengro
2021
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells spinal cord. Nusinersen has been covered public healthcare in France since May 2017. The aim this article to report results after 1 year treatment with intrathecal nusinersen children SMA types and 2 France. Comparisons between onset (T0) (Y1) were made terms motor function need for nutritional ventilatory support. Motor development...
To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide solid frame of data for future evidence-based health management.Among the 2,697 patients with genetically confirmed DM1 included in French DM-Scope registry, children were enrolled between January 2010 February 2016 from 24 centers. Comprehensive cross-sectional analysis most relevant qualitative quantitative variables was performed.We studied 314 (52% females, 55% congenital,...
To describe the clinical characteristics and outcomes of coronavirus disease 2019 (COVID-19) among patients with myasthenia gravis (MG) identify factors associated COVID-19 severity in MG.The CO-MY-COVID registry was a multicenter, retrospective, observational cohort study conducted neuromuscular referral centers general hospitals FILNEMUS (Filière Neuromusculaire) network (between March 1, 2020, June 8, 2020), including MG confirmed or highly suspected diagnosis COVID-19. diagnosed based on...
Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity screen all these high efficiency in order unravel genetic basis disease. Here, we compare diagnostic yield NGS our previous gene by Sanger strategy. We also describe several novel likely pathogenic variants.We have completed 81 IPN cohort 123 unrelated patients...
To estimate the effect of prophylactic angiotensin-converting enzyme inhibitors (ACEi) on survival in Duchenne muscular dystrophy (DMD).We analysed data from French multicentre DMD Heart Registry (ClinicalTrials.gov: NCT03443115). We estimated association between prescription ACEi and event-free 668 patients aged 8 to 13 years, with normal left ventricular function, using (i) a Cox model intervention as time-dependent covariate, (ii) propensity-based analysis comparing treatment vs. no...
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There is to date limited evidence that revascularization strategies are associated with improved functional outcome in children acute ischemic stroke (AIS).To report clinical outcomes and provide estimates of strategy safety efficacy profiles intravenous thrombolysis (IVT) and/or endovascular treatment (EVT) AIS.The KidClot multicenter nationwide cohort study retrospectively collected data (neonates excluded) AIS recanalization between January 1, 2015, May 31, 2018. Data analysis was...
<h3>Background and Objectives</h3> Corticosteroids are the first-line immunosuppressants in management of juvenile myasthenia gravis despite their adverse effects. The place new immunosuppressive therapies is not clearly defined by last international consensus held March 2019 due to lack clinical trials. aim this study describe use rituximab its efficacy safety 8 main pediatric centers French neuromuscular reference network propose a therapeutic strategy gravis. <h3>Methods</h3> We conducted...
Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications COVID-19. The objective this study was analyze the prevalence COVID-19 among NMD and factors for its impact severity during first wave pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 May 11, in an anonymous survey carried out by expert physicians French Health Care Network Filnemus.Physicians reported 84 including: 34...
Neurofibromatosis 1 (NF1) is an autosomal dominant tumour predisposition disorder with a birth incidence of about in 2,700 and prevalence 4,560. The NF1 gene codes for ubiquitous protein: neurofibromin. Neurofibromin interacts the proto-oncogene RAS to suppress formation. Individuals germline inactivation have propensity develop both benign malignant tumours. We report case 12-year-old child NF1, diagnosed at age 15 months, whom clinical course has been marked by appearance multiple...
Abstract Introduction/Aims In adult spinal muscular atrophy (SMA), the motor unit number index (MUNIX) has been shown to be an useful electrophysiological biomarker. This study evaluated feasibility and clinical relevance of using MUNIX technique for patients with pediatric SMA (Ped‐SMA) correlated results scores. Methods Fourteen type II Ped‐SMA (11 females; median age 11 y [interquartile range (IQR), 4.8–17 y]) 14 controls (nine 10.75 [IQR, 6.5–13.4 were enrolled matched by sex, age,...
Collagen type VI-related dystrophies (COL6-RD) are rare diseases with a wide phenotypic spectrum ranging from severe Ullrich’s congenital muscular dystrophy Ullrich to much milder Bethlem myopathy Both dominant and recessive forms of COL6-RD caused by pathogenic variants in three collagen VI genes ( COL6A1 , COL6A2 COL6A3 ). The prognosis these is variable difficult predict during early disease stages, especially since the genotype-phenotype correlation not always clear. For this reason,...